HNRNPH2
Basic information
Region (hg38): X:101408221-101414133
Previous symbols: [ "HNRPH2" ]
Links
Phenotypes
GenCC
Source:
- intellectual disability, X-linked, syndromic, Bain type (Strong), mode of inheritance: XL
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Intellectual developmental disorder, X-linked, syndromic, Bain type | XL | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Craniofacial; Musculoskeletal; Neurologic | 27545675 |
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (21 variants)
- Intellectual disability, X-linked, syndromic, Bain type (11 variants)
- Inborn genetic diseases (4 variants)
- Fabry disease (2 variants)
- Stereotypic movement disorder;Abnormal facial shape (1 variants)
- Neurodevelopmental disorder (1 variants)
- HNRNPH2-related condition (1 variants)
- Neurodevelopmental delay (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the HNRNPH2 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 7 | |||||
missense | 16 | |||||
nonsense | 1 | |||||
start loss | 0 | |||||
frameshift | 2 | |||||
inframe indel | 1 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region ? | 0 | |||||
non coding ? | 2 | |||||
Total | 3 | 4 | 12 | 8 | 2 |
Variants in HNRNPH2
This is a list of pathogenic ClinVar variants found in the HNRNPH2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
X-101408476-G-C | Fabry disease | Uncertain significance (Jul 16, 2020) | ||
X-101408672-C-G | Fabry disease | Benign (Jan 22, 2024) | ||
X-101412003-G-A | Likely benign (Sep 01, 2022) | |||
X-101412036-G-A | HNRNPH2-related disorder | Likely benign (Mar 08, 2019) | ||
X-101412073-C-T | Intellectual disability, X-linked, syndromic, Bain type | Likely pathogenic (Dec 12, 2018) | ||
X-101412126-C-A | Likely benign (Dec 20, 2018) | |||
X-101412328-C-T | Intellectual disability, X-linked, syndromic, Bain type | Pathogenic (Jan 28, 2022) | ||
X-101412444-AG-A | Intellectual disability, X-linked, syndromic, Bain type | Likely pathogenic (Oct 04, 2022) | ||
X-101412452-C-G | Uncertain significance (Dec 09, 2019) | |||
X-101412464-T-A | Uncertain significance (Oct 25, 2023) | |||
X-101412559-GT-G | Uncertain significance (Sep 20, 2019) | |||
X-101412592-A-C | Inborn genetic diseases | Uncertain significance (Apr 11, 2023) | ||
X-101412601-C-T | Intellectual disability, X-linked, syndromic, Bain type | Likely pathogenic (Jul 08, 2022) | ||
X-101412604-C-T | Intellectual disability, X-linked, syndromic, Bain type • Inborn genetic diseases • Neurodevelopmental disorder • Neurodevelopmental delay • Stereotypic movement disorder;Abnormal facial shape | Pathogenic/Likely pathogenic (Mar 01, 2024) | ||
X-101412605-G-A | Intellectual disability, X-linked, syndromic, Bain type • HNRNPH2-related disorder | Pathogenic (Jan 11, 2024) | ||
X-101412614-C-T | Intellectual disability, X-linked, syndromic, Bain type | Pathogenic (Mar 12, 2018) | ||
X-101412617-A-G | Inborn genetic diseases • Intellectual disability, X-linked, syndromic, Bain type | Conflicting classifications of pathogenicity (Apr 17, 2018) | ||
X-101412623-G-C | Intellectual disability, X-linked, syndromic, Bain type | Likely pathogenic (Apr 20, 2018) | ||
X-101412624-G-T | Likely pathogenic (Apr 16, 2020) | |||
X-101412626-C-T | Uncertain significance (Aug 14, 2023) | |||
X-101412627-G-A | Likely benign (Feb 01, 2024) | |||
X-101412650-G-T | Inborn genetic diseases | Uncertain significance (Dec 13, 2023) | ||
X-101412697-G-A | Uncertain significance (Dec 06, 2021) | |||
X-101412725-A-G | Intellectual disability, X-linked, syndromic, Bain type | Uncertain significance (Mar 24, 2020) | ||
X-101412757-T-A | HNRNPH2-related disorder | Likely benign (Aug 31, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
HNRNPH2 | protein_coding | protein_coding | ENST00000316594 | 1 | 5839 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.954 | 0.0454 | 0 | 0 | 0 | 0 | 0.00 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 3.62 | 42 | 178 | 0.236 | 0.0000132 | 2975 |
Missense in Polyphen | 3 | 42.507 | 0.070577 | 820 | ||
Synonymous | 0.332 | 63 | 66.4 | 0.948 | 0.00000520 | 868 |
Loss of Function | 2.89 | 0 | 9.69 | 0.00 | 8.81e-7 | 172 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.00 | 0.00 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Binds poly(RG).;
- Pathway
- mRNA Processing;Metabolism of RNA;mRNA Splicing - Major Pathway;mRNA Splicing;Processing of Capped Intron-Containing Pre-mRNA
(Consensus)
Recessive Scores
- pRec
- 0.221
Intolerance Scores
- loftool
- 0.111
- rvis_EVS
- -0.14
- rvis_percentile_EVS
- 42.88
Haploinsufficiency Scores
- pHI
- 0.913
- hipred
- Y
- hipred_score
- 0.840
- ghis
- 0.467
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.860
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Low | Medium |
Primary Immunodeficiency | Medium | Low | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Hnrnph2
- Phenotype
Gene ontology
- Biological process
- mRNA splicing, via spliceosome;RNA metabolic process
- Cellular component
- nucleus;nucleoplasm;cytosol;postsynaptic density;membrane;ribonucleoprotein complex
- Molecular function
- RNA binding;protein binding